Table 3.
Disease causing copy number variants detected in the PIDD cohort
| Gender | Age | Diagnosis pre-WES (PIDD subgroup) | PIDD gene involved | Inheritance pattern for disease | Mutation type | Size of CNV | State | Affected family members |
|---|---|---|---|---|---|---|---|---|
| Male | 13y | Hoyeraal Hreidarssons syndrome, X linked (ix) | DCK1 | XL | Duplication | 14 kb | Hemi | 3 |
| Male | NA | Combined immunodeficiency (v) | DOCK8 | AR | Deletion | 355 kb | Hom | 2 |
| Female | 5y | HLH and NK cell defect (viii) | DOCK8 | AR | Deletion | 84 kb | Hom | 1 |
| Female | 34y | Fanconi anemia, mild (ix) | FANCA | AR | Deletion | 22-24.6 kb | Het | 2 |
| Male | 30y | Agammaglobulinemia (i) | IKZF1 | AD | Deletion | 15 kb | Het | 1 |
| Female | 2y | SCID, later debut (iv) | IL7R | AR | Deletion | 224 kb | Het | 1 |
| Male | 16y | Immunodeficiency, X linked, extensive warts (v) | MAGT1 | XL | Deletion | 16 kb | Hemi | 2 |
| Female | 8y | Immunodeficiency, progressive bone marrow failure. Short stature, dysmorphic facial features. (x) | MYB | AD | Deletion | 3.4 Mb | Het | 1 |
| Female | 71y | Chronic Granulomatous Disease (ix) | NCF1 | AR | Deletion | 15 kb | Hom | 1 |
| Male | 6y | T and B cell deficiency and neutropenia (iv) | PGM3 | AR | Deletion | 1.24 Mb | Het | 3 |
| Female | 4y | Immunosseous dysplasia (x) | SMARCAL1 | AR | Deletion | 1.6 kb | Hom | 1 |
| Male | 49y | Dyskeratosis Congenita, progressive bone marrow failure, Short telomere lengths (ix) | TERC | AD | Deletion | 3 kb | Het | 1 |